UniProtKB - Q92832 (NELL1_HUMAN)
Protein
Protein kinase C-binding protein NELL1
Gene
NELL1
Organism
Homo sapiens (Human)
Status
Functioni
Plays a role in the control of cell growth and differentiation. Promotes osteoblast cell differentiation and terminal mineralization.1 Publication
GO - Molecular functioni
- calcium ion binding Source: InterPro
- heparin binding Source: GO_Central
- protein kinase C binding Source: GO_Central
GO - Biological processi
- cell differentiation Source: UniProtKB-KW
- negative regulation of cellular protein catabolic process Source: UniProtKB
- negative regulation of osteoblast proliferation Source: UniProtKB
- nervous system development Source: ProtInc
- positive regulation of bone mineralization Source: UniProtKB
- positive regulation of osteoblast differentiation Source: UniProtKB
- regulation of gene expression Source: UniProtKB
Keywordsi
Biological process | Differentiation |
Ligand | Calcium |
Enzyme and pathway databases
PathwayCommonsi | Q92832 |
Names & Taxonomyi
Protein namesi | Recommended name: Protein kinase C-binding protein NELL1Alternative name(s): NEL-like protein 1 Nel-related protein 1 |
Gene namesi | Name:NELL1 Synonyms:NRP1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:7750, NELL1 |
MIMi | 602319, gene |
neXtProti | NX_Q92832 |
VEuPathDBi | HostDB:ENSG00000165973.17 |
Subcellular locationi
Nucleus
- Nucleus envelope 1 Publication
Extracellular region or secreted
- Secreted By similarity
Other locations
- Cytoplasm 1 Publication
Note: Colocalizes with ATRAID on the nuclear envelope and the perinuclear region.
Extracellular region or secreted
- extracellular region Source: UniProtKB-SubCell
Nucleus
- nuclear envelope Source: UniProtKB
Other locations
- cytoplasm Source: UniProtKB
- perinuclear region of cytoplasm Source: UniProtKB
Keywords - Cellular componenti
Cytoplasm, Nucleus, SecretedPathology & Biotechi
Organism-specific databases
DisGeNETi | 4745 |
OpenTargetsi | ENSG00000165973 |
PharmGKBi | PA31552 |
Miscellaneous databases
Pharosi | Q92832, Tbio |
Genetic variation databases
BioMutai | NELL1 |
DMDMi | 311033486 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 21 | Sequence analysisAdd BLAST | 21 | |
ChainiPRO_0000007664 | 22 – 810 | Protein kinase C-binding protein NELL1Add BLAST | 789 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 40 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 53 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 83 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 224 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 294 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 372 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 395 ↔ 407 | PROSITE-ProRule annotation | ||
Disulfide bondi | 401 ↔ 416 | PROSITE-ProRule annotation | ||
Disulfide bondi | 418 ↔ 432 | PROSITE-ProRule annotation | ||
Disulfide bondi | 438 ↔ 451 | PROSITE-ProRule annotation | ||
Disulfide bondi | 445 ↔ 460 | PROSITE-ProRule annotation | ||
Disulfide bondi | 462 ↔ 474 | PROSITE-ProRule annotation | ||
Disulfide bondi | 480 ↔ 493 | PROSITE-ProRule annotation | ||
Disulfide bondi | 487 ↔ 502 | PROSITE-ProRule annotation | ||
Disulfide bondi | 504 ↔ 515 | PROSITE-ProRule annotation | ||
Glycosylationi | 511 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 519 ↔ 529 | PROSITE-ProRule annotation | ||
Disulfide bondi | 523 ↔ 535 | PROSITE-ProRule annotation | ||
Disulfide bondi | 537 ↔ 546 | PROSITE-ProRule annotation | ||
Disulfide bondi | 553 ↔ 566 | PROSITE-ProRule annotation | ||
Disulfide bondi | 560 ↔ 575 | PROSITE-ProRule annotation | ||
Glycosylationi | 562 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 577 ↔ 594 | PROSITE-ProRule annotation | ||
Disulfide bondi | 600 ↔ 613 | PROSITE-ProRule annotation | ||
Disulfide bondi | 607 ↔ 622 | PROSITE-ProRule annotation | ||
Glycosylationi | 609 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 624 ↔ 630 | PROSITE-ProRule annotation | ||
Glycosylationi | 708 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 732 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 758 | N-linked (GlcNAc...) asparagineSequence analysis | 1 |
Keywords - PTMi
Disulfide bond, GlycoproteinProteomic databases
MassIVEi | Q92832 |
PaxDbi | Q92832 |
PeptideAtlasi | Q92832 |
PRIDEi | Q92832 |
ProteomicsDBi | 75509 [Q92832-1] 75510 [Q92832-2] |
PTM databases
GlyGeni | Q92832, 12 sites |
iPTMneti | Q92832 |
PhosphoSitePlusi | Q92832 |
SwissPalmi | Q92832 |
Expressioni
Gene expression databases
Bgeei | ENSG00000165973, Expressed in stomach and 139 other tissues |
ExpressionAtlasi | Q92832, baseline and differential |
Genevisiblei | Q92832, HS |
Organism-specific databases
HPAi | ENSG00000165973, Tissue enhanced (brain, kidney) |
Interactioni
Subunit structurei
Homotrimer. Binds to PKC beta-1 (By similarity).
Interacts with ATRAID; the interaction promotes osteoblast cell differentiation and mineralization.
By similarity1 PublicationBinary interactionsi
Hide detailsGO - Molecular functioni
- protein kinase C binding Source: GO_Central
Protein-protein interaction databases
BioGRIDi | 110820, 27 interactors |
IntActi | Q92832, 39 interactors |
MINTi | Q92832 |
STRINGi | 9606.ENSP00000298925 |
Miscellaneous databases
RNActi | Q92832, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | Q92832 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 64 – 227 | Laminin G-likeAdd BLAST | 164 | |
Domaini | 271 – 332 | VWFC 1PROSITE-ProRule annotationAdd BLAST | 62 | |
Domaini | 434 – 475 | EGF-like 1; calcium-bindingPROSITE-ProRule annotationAdd BLAST | 42 | |
Domaini | 476 – 516 | EGF-like 2; calcium-bindingPROSITE-ProRule annotationAdd BLAST | 41 | |
Domaini | 517 – 547 | EGF-like 3PROSITE-ProRule annotationAdd BLAST | 31 | |
Domaini | 549 – 587 | EGF-like 4; calcium-bindingPROSITE-ProRule annotationAdd BLAST | 39 | |
Domaini | 596 – 631 | EGF-like 5; calcium-bindingPROSITE-ProRule annotationAdd BLAST | 36 | |
Domaini | 692 – 750 | VWFC 2PROSITE-ProRule annotationAdd BLAST | 59 |
Keywords - Domaini
EGF-like domain, Repeat, SignalPhylogenomic databases
eggNOGi | KOG1217, Eukaryota |
GeneTreei | ENSGT00810000125439 |
HOGENOMi | CLU_006887_0_0_1 |
InParanoidi | Q92832 |
OrthoDBi | 767046at2759 |
PhylomeDBi | Q92832 |
TreeFami | TF323325 |
Family and domain databases
InterProi | View protein in InterPro IPR013320, ConA-like_dom_sf IPR001881, EGF-like_Ca-bd_dom IPR000742, EGF-like_dom IPR000152, EGF-type_Asp/Asn_hydroxyl_site IPR018097, EGF_Ca-bd_CS IPR024731, EGF_dom IPR009030, Growth_fac_rcpt_cys_sf IPR001791, Laminin_G IPR001007, VWF_dom |
Pfami | View protein in Pfam PF12947, EGF_3, 1 hit PF07645, EGF_CA, 3 hits PF00093, VWC, 2 hits |
SMARTi | View protein in SMART SM00181, EGF, 6 hits SM00179, EGF_CA, 5 hits SM00282, LamG, 1 hit SM00210, TSPN, 1 hit SM00214, VWC, 4 hits SM00215, VWC_out, 2 hits |
SUPFAMi | SSF49899, SSF49899, 1 hit SSF57184, SSF57184, 1 hit |
PROSITEi | View protein in PROSITE PS00010, ASX_HYDROXYL, 3 hits PS00022, EGF_1, 1 hit PS01186, EGF_2, 3 hits PS50026, EGF_3, 5 hits PS01187, EGF_CA, 3 hits PS01208, VWFC_1, 2 hits PS50184, VWFC_2, 2 hits |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q92832-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MPMDLILVVW FCVCTARTVV GFGMDPDLQM DIVTELDLVN TTLGVAQVSG
60 70 80 90 100
MHNASKAFLF QDIEREIHAA PHVSEKLIQL FRNKSEFTIL ATVQQKPSTS
110 120 130 140 150
GVILSIRELE HSYFELESSG LRDEIRYHYI HNGKPRTEAL PYRMADGQWH
160 170 180 190 200
KVALSVSASH LLLHVDCNRI YERVIDPPDT NLPPGINLWL GQRNQKHGLF
210 220 230 240 250
KGIIQDGKII FMPNGYITQC PNLNHTCPTC SDFLSLVQGI MDLQELLAKM
260 270 280 290 300
TAKLNYAETR LSQLENCHCE KTCQVSGLLY RDQDSWVDGD HCRNCTCKSG
310 320 330 340 350
AVECRRMSCP PLNCSPDSLP VHIAGQCCKV CRPKCIYGGK VLAEGQRILT
360 370 380 390 400
KSCRECRGGV LVKITEMCPP LNCSEKDHIL PENQCCRVCR GHNFCAEGPK
410 420 430 440 450
CGENSECKNW NTKATCECKS GYISVQGDSA YCEDIDECAA KMHYCHANTV
460 470 480 490 500
CVNLPGLYRC DCVPGYIRVD DFSCTEHDEC GSGQHNCDEN AICTNTVQGH
510 520 530 540 550
SCTCKPGYVG NGTICRAFCE EGCRYGGTCV APNKCVCPSG FTGSHCEKDI
560 570 580 590 600
DECSEGIIEC HNHSRCVNLP GWYHCECRSG FHDDGTYSLS GESCIDIDEC
610 620 630 640 650
ALRTHTCWND SACINLAGGF DCLCPSGPSC SGDCPHEGGL KHNGQVWTLK
660 670 680 690 700
EDRCSVCSCK DGKIFCRRTA CDCQNPSADL FCCPECDTRV TSQCLDQNGH
710 720 730 740 750
KLYRSGDNWT HSCQQCRCLE GEVDCWPLTC PNLSCEYTAI LEGECCPRCV
760 770 780 790 800
SDPCLADNIT YDIRKTCLDS YGVSRLSGSV WTMAGSPCTT CKCKNGRVCC
810
SVDFECLQNN
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketJ3KNC5 | J3KNC5_HUMAN | NEL-like 1 (Chicken), isoform CRA_a | NELL1 hCG_1811036 | 838 | Annotation score: | ||
F5H6I3 | F5H6I3_HUMAN | Protein kinase C-binding protein NE... | NELL1 | 753 | Annotation score: |
Sequence cautioni
The sequence AAB06946 differs from that shown. Reason: Frameshift.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 383 | N → D in AAB06946 (Ref. 7) Curated | 1 | |
Sequence conflicti | 573 | Y → H in AAB06946 (Ref. 7) Curated | 1 | |
Sequence conflicti | 626 | S → C in AAB06946 (Ref. 7) Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_047828 | 82 | R → Q4 PublicationsCorresponds to variant dbSNP:rs8176785Ensembl. | 1 | |
Natural variantiVAR_047829 | 211 | F → V. Corresponds to variant dbSNP:rs35809043EnsemblClinVar. | 1 | |
Natural variantiVAR_047830 | 287 | V → I. Corresponds to variant dbSNP:rs11820003EnsemblClinVar. | 1 | |
Natural variantiVAR_020167 | 354 | R → W. Corresponds to variant dbSNP:rs8176786Ensembl. | 1 | |
Natural variantiVAR_035834 | 553 | C → F in a colorectal cancer sample; somatic mutation. 1 Publication | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_039954 | 549 – 595 | Missing in isoform 2. 1 PublicationAdd BLAST | 47 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | D83017 mRNA Translation: BAA11680.1 AK313445 mRNA Translation: BAG36234.1 EU518937 Genomic DNA Translation: ACB21040.1 AC010811 Genomic DNA No translation available. AC067794 Genomic DNA No translation available. AC069575 Genomic DNA No translation available. AC087279 Genomic DNA No translation available. AC090707 Genomic DNA No translation available. AC090857 Genomic DNA No translation available. AC099730 Genomic DNA No translation available. AC105190 Genomic DNA No translation available. AC108460 Genomic DNA No translation available. CH471064 Genomic DNA Translation: EAW68328.1 BC069674 mRNA Translation: AAH69674.1 BC096100 mRNA Translation: AAH96100.1 BC096101 mRNA Translation: AAH96101.1 BC096102 mRNA Translation: AAH96102.1 U57523 mRNA Translation: AAB06946.1 Frameshift. |
CCDSi | CCDS44555.1 [Q92832-2] CCDS7855.1 [Q92832-1] |
RefSeqi | NP_001275642.1, NM_001288713.1 NP_001275643.1, NM_001288714.1 NP_006148.2, NM_006157.4 [Q92832-1] NP_963845.1, NM_201551.2 [Q92832-2] |
Genome annotation databases
Ensembli | ENST00000357134; ENSP00000349654; ENSG00000165973 [Q92832-1] ENST00000532434; ENSP00000437170; ENSG00000165973 [Q92832-2] |
GeneIDi | 4745 |
KEGGi | hsa:4745 |
UCSCi | uc001mqe.5, human [Q92832-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | D83017 mRNA Translation: BAA11680.1 AK313445 mRNA Translation: BAG36234.1 EU518937 Genomic DNA Translation: ACB21040.1 AC010811 Genomic DNA No translation available. AC067794 Genomic DNA No translation available. AC069575 Genomic DNA No translation available. AC087279 Genomic DNA No translation available. AC090707 Genomic DNA No translation available. AC090857 Genomic DNA No translation available. AC099730 Genomic DNA No translation available. AC105190 Genomic DNA No translation available. AC108460 Genomic DNA No translation available. CH471064 Genomic DNA Translation: EAW68328.1 BC069674 mRNA Translation: AAH69674.1 BC096100 mRNA Translation: AAH96100.1 BC096101 mRNA Translation: AAH96101.1 BC096102 mRNA Translation: AAH96102.1 U57523 mRNA Translation: AAB06946.1 Frameshift. |
CCDSi | CCDS44555.1 [Q92832-2] CCDS7855.1 [Q92832-1] |
RefSeqi | NP_001275642.1, NM_001288713.1 NP_001275643.1, NM_001288714.1 NP_006148.2, NM_006157.4 [Q92832-1] NP_963845.1, NM_201551.2 [Q92832-2] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
6POL | X-ray | 1.80 | B/D/F | 390-517 | [»] | |
SMRi | Q92832 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 110820, 27 interactors |
IntActi | Q92832, 39 interactors |
MINTi | Q92832 |
STRINGi | 9606.ENSP00000298925 |
PTM databases
GlyGeni | Q92832, 12 sites |
iPTMneti | Q92832 |
PhosphoSitePlusi | Q92832 |
SwissPalmi | Q92832 |
Genetic variation databases
BioMutai | NELL1 |
DMDMi | 311033486 |
Proteomic databases
MassIVEi | Q92832 |
PaxDbi | Q92832 |
PeptideAtlasi | Q92832 |
PRIDEi | Q92832 |
ProteomicsDBi | 75509 [Q92832-1] 75510 [Q92832-2] |
Protocols and materials databases
Antibodypediai | 25294, 148 antibodies |
DNASUi | 4745 |
Genome annotation databases
Ensembli | ENST00000357134; ENSP00000349654; ENSG00000165973 [Q92832-1] ENST00000532434; ENSP00000437170; ENSG00000165973 [Q92832-2] |
GeneIDi | 4745 |
KEGGi | hsa:4745 |
UCSCi | uc001mqe.5, human [Q92832-1] |
Organism-specific databases
CTDi | 4745 |
DisGeNETi | 4745 |
GeneCardsi | NELL1 |
HGNCi | HGNC:7750, NELL1 |
HPAi | ENSG00000165973, Tissue enhanced (brain, kidney) |
MIMi | 602319, gene |
neXtProti | NX_Q92832 |
OpenTargetsi | ENSG00000165973 |
PharmGKBi | PA31552 |
VEuPathDBi | HostDB:ENSG00000165973.17 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1217, Eukaryota |
GeneTreei | ENSGT00810000125439 |
HOGENOMi | CLU_006887_0_0_1 |
InParanoidi | Q92832 |
OrthoDBi | 767046at2759 |
PhylomeDBi | Q92832 |
TreeFami | TF323325 |
Enzyme and pathway databases
PathwayCommonsi | Q92832 |
Miscellaneous databases
BioGRID-ORCSi | 4745, 3 hits in 865 CRISPR screens |
ChiTaRSi | NELL1, human |
GeneWikii | NELL1 |
GenomeRNAii | 4745 |
Pharosi | Q92832, Tbio |
PROi | PR:Q92832 |
RNActi | Q92832, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000165973, Expressed in stomach and 139 other tissues |
ExpressionAtlasi | Q92832, baseline and differential |
Genevisiblei | Q92832, HS |
Family and domain databases
InterProi | View protein in InterPro IPR013320, ConA-like_dom_sf IPR001881, EGF-like_Ca-bd_dom IPR000742, EGF-like_dom IPR000152, EGF-type_Asp/Asn_hydroxyl_site IPR018097, EGF_Ca-bd_CS IPR024731, EGF_dom IPR009030, Growth_fac_rcpt_cys_sf IPR001791, Laminin_G IPR001007, VWF_dom |
Pfami | View protein in Pfam PF12947, EGF_3, 1 hit PF07645, EGF_CA, 3 hits PF00093, VWC, 2 hits |
SMARTi | View protein in SMART SM00181, EGF, 6 hits SM00179, EGF_CA, 5 hits SM00282, LamG, 1 hit SM00210, TSPN, 1 hit SM00214, VWC, 4 hits SM00215, VWC_out, 2 hits |
SUPFAMi | SSF49899, SSF49899, 1 hit SSF57184, SSF57184, 1 hit |
PROSITEi | View protein in PROSITE PS00010, ASX_HYDROXYL, 3 hits PS00022, EGF_1, 1 hit PS01186, EGF_2, 3 hits PS50026, EGF_3, 5 hits PS01187, EGF_CA, 3 hits PS01208, VWFC_1, 2 hits PS50184, VWFC_2, 2 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | NELL1_HUMAN | |
Accessioni | Q92832Primary (citable) accession number: Q92832 Secondary accession number(s): B2CKC1 Q9Y472 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 1, 1997 |
Last sequence update: | November 2, 2010 | |
Last modified: | February 10, 2021 | |
This is version 189 of the entry and version 4 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 11
Human chromosome 11: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references